A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12761156



Internal ID1994686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47614040..47615388hg38UCSC Ensembl
Innerchr7:47614249..47615179hg38UCSC Ensembl
Outerchr7:47613831..47615597hg38UCSC Ensembl
chr7:47653638..47654986hg19UCSC Ensembl
Innerchr7:47653847..47654777hg19UCSC Ensembl
Outerchr7:47653429..47655195hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613066
Supporting Variants
SamplesHG01848
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12761156
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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